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Table 1 Summary of the clinical phenotypes of the patients presented in Fig. 2

From: Proximal 21q deletion as a result of a de novo unbalanced t(12;21) translocation in a patient with dysmorphic features, hepatomegaly, thick myocardium and delayed psychomotor development

Clinical features Present case Lyle case 32 Lyle case 33 Roberson GM08210 Roberson GM00137 Roberson GM06918 Lindstrand Pt3 Roberson Pt3 Lindstrand Pt2 Click Orti LAE Shinawi Pt3 Lyle case 38 Byrd Thevenon
 Sex F U U F M M M F F F U F U F M
 Age at latest examinationa 2 U U U U U 6 6 0.8 0.2 U U U 5 6
Development                
 Intellectual disability + + + + + + + + +    +    
 Hearing loss           +      
 Short stature   +     +          
 Low birth weight        +   + +     + +
 Delayed or no language +       +         +
 Feeding difficulties          +       
Neurological                
 Hypotonia + +              +
 Hypertonia   +              
Craniofacial features                
 Facial asymmetry +    +            
 Microcephaly   +              
 Low anterior or posterior hairline   +     +   +   +      +
 Frontal bossing     +         +    +
 Synophrys           +      
 Low set ears +         + +      +
 Large ears   +         +      
 Bulbous nose tip           +      
 Broad or depressed nasal bridge   +   +       +   +    +
 High or cleft palate   +   +   +         +  
 Broad mouth   +              
 Micrognathia       +          
 Downward slanting palpebral fissures       +    + +     + +
 Strabismus         +   +   +   + +
 Small eyes +            +    
 Hypertelorism          +    +    
 Amblyopia         +        
 Epicanthal folds             +   +  
Other                
 Gastroesophageal reflux         + +       
 Congenital heart defect +       +   + +     + +
 Hepatomegaly +               
 Scoliosis +          +      
 Distal limbs abnormalities +    +    +        +  
 Clinodactoly of the fifth finger   +              
 Palmar crease   +             + +
  1. M male, F female, U unknown; ain years